Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
2006 1
2011 1
2020 1
2021 2
2022 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 43"
Page 1
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Kalmár T, Maróti Z, Zimmermann A, Sztriha L. Kalmár T, et al. Brain Dev. 2021 Jan;43(1):144-151. doi: 10.1016/j.braindev.2020.07.015. Epub 2020 Aug 11. Brain Dev. 2021. PMID: 32798076 Free article.
ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A and SPG9B, respectively), as well as autosomal dominant and recessive cutis laxa (ADCL3 and ARCL3A, respecti …
ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic …
Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study.
Wisch JK, McKay NS, Boerwinkle AH, Kennedy J, Flores S, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant SE, Price JC, Laymon CM, Krinsky-McHale SJ, Lai F, Rosas HD, Hartley SL, Zaman S, Lott IT, Tudorascu D, Zammit M, Brickman AM, Lee JH, Bird TD, Cohen A, Chrem P, Daniels A, Chhatwal JP, Cruchaga C, Ibanez L, Jucker M, Karch CM, Day GS, Lee JH, Levin J, Llibre-Guerra J, Li Y, Lopera F, Roh JH, Ringman JM, Supnet-Bell C, van Dyck CH, Xiong C, Wang G, Morris JC, McDade E, Bateman RJ, Benzinger TLS, Gordon BA, Ances BM; Alzheimer's Biomarker Consortium-Down syndrome; Dominantly Inherited Alzheimer Network. Wisch JK, et al. Lancet Neurol. 2024 May;23(5):500-510. doi: 10.1016/S1474-4422(24)00084-X. Lancet Neurol. 2024. PMID: 38631766
FINDINGS: We included 137 people with Down syndrome (mean age 38.5 years [SD 8.2], 74 [54%] male, and 63 [46%] female), 49 individuals with autosomal-dominant Alzheimer's disease (mean age 43.9 years [11.2], 22 [45%] male, and 27 [55%] female), and 85 familia …
FINDINGS: We included 137 people with Down syndrome (mean age 38.5 years [SD 8.2], 74 [54%] male, and 63 [46%] female), 49 individuals with …
TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype.
Davidson YS, Raby S, Foulds PG, Robinson A, Thompson JC, Sikkink S, Yusuf I, Amin H, DuPlessis D, Troakes C, Al-Sarraj S, Sloan C, Esiri MM, Prasher VP, Allsop D, Neary D, Pickering-Brown SM, Snowden JS, Mann DM. Davidson YS, et al. Acta Neuropathol. 2011 Dec;122(6):703-13. doi: 10.1007/s00401-011-0879-y. Epub 2011 Oct 4. Acta Neuropathol. 2011. PMID: 21968532
TDP-43 immunoreactive (TDP-43-ir) pathological changes were investigated in the temporal cortex and hippocampus of 11 patients with autosomal dominant familial forms of Alzheimer's disease (FAD), 169 patients with sporadic AD [85 with early onset disea …
TDP-43 immunoreactive (TDP-43-ir) pathological changes were investigated in the temporal cortex and hippocampus of 11 patients …
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B, Amati-Bonneau P, Desquiret-Dumas V, Guehlouz K, Milea D, Gohier P, Lenaers G, Mirebeau-Prunier D, den Dunnen JT, Reynier P, Ferré M. Billiet B, et al. Hum Mutat. 2022 Feb;43(2):128-142. doi: 10.1002/humu.24305. Epub 2021 Dec 9. Hum Mutat. 2022. PMID: 34837429
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and …
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atroph …
Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation.
Sammour ZM, Gomes CM, Duarte RJ, Trigo-Rocha FE, Srougi M. Sammour ZM, et al. J Urol. 2006 Apr;175(4):1472-6. doi: 10.1016/S0022-5347(05)00666-X. J Urol. 2006. PMID: 16516025
PURPOSE: WBS is an autosomal dominant disorder that includes features such as developmental delay, cardiovascular anomalies, mental retardation and characteristic facial appearance. ...A total of 14 patients (50%) had urinary tract abnormalities, with bladder divert …
PURPOSE: WBS is an autosomal dominant disorder that includes features such as developmental delay, cardiovascular anomalies, m …
The inheritance of Alzheimer's disease: a new interpretation.
Fitch N, Becker R, Heller A. Fitch N, et al. Ann Neurol. 1988 Jan;23(1):14-9. doi: 10.1002/ana.410230104. Ann Neurol. 1988. PMID: 2964224
The diagnosis was confirmed by autopsy in 26 cases. Thirty-nine cases (43%) were familial, which is defined as more than one case in the family. ...In the familial type we think that the disease is inherited as an autosomal dominant, with a wide range of age …
The diagnosis was confirmed by autopsy in 26 cases. Thirty-nine cases (43%) were familial, which is defined as more than one case in …